In recent times, medicine has made incredible advances in the treatment of rare diseases and, thanks to the medical solutions introduced, many patients are able to lead almost normal lives. However, there are still conditions that remain an enigma of medicine and, despite the latest therapeutic options, remain in the shadows. One of these is acquired thrombotic thrombocytopenic purpura, iTTP/aTTP, a rare and dangerous blood disease that still remains a mystery and a challenge for doctors worldwide.
- iTTP/ATTP - is a rare but extremely dangerous haematological disease that can appear suddenly and pose a serious threat to the patient's health.
- In Poland, about 30 people are diagnosed with iTTP/aTTP each year, but experts emphasise that there may be more as the disease is sometimes not diagnosed in time
- International Thrombotic Thrombocytopenic Purpura Day is celebrated worldwide on 19 September to draw attention to the needs of patients struggling with it.
Ultra-rare and ultra-dangerous. Acquired thrombotic thrombocytopenic purpura (iTTP/aTTP) is a rare but extremely dangerous haematological disease that can occur suddenly and lead to serious health complications, including death. Worldwide, the incidence of iTTP/aTTP is estimated at 1.47-3.10 / million people, making it an ultra-rare disease. In Poland, 30 cases are detected annually, but experts stress that there may be more, as it happens that the disease is not diagnosed in time. Such a small scale of the problem may be encouraging, but it also has its dark side: there is a lack of widespread knowledge of the disease and the experience that is so necessary to detect the problem.
"Thrombotic thrombocytopenic purpura was something I had not experienced before as a young doctor. My first patient was a young woman who had undergone many relapses, but with steroid treatment she was stabilised. This was the first patient that sparked my interest in this rare disease." says Dr. Michał Witkowski from the General Haematology Department of the M. Kopernik Regional Multispecialist Oncology and Traumatology Centre in Łódź, from the Leukaemia Foundation.
iTTP/a episodeTTP: Life-threatening. The most important feature of iTTP/aTTP is that each episode of this disease is a real threat to life. The blood clots that develop as a result of the disease can lead to ischaemia of various organs, such as the brain, heart or kidneys. It is these blood clots, which form in the circulation, that make the complications of the disease potentially fatal or long-term disabling.
Young patients on the road of struggle. Patients who develop their first iTTP/aTTP episode are usually young people in their 30s and 40s. These are people who, from one day to the next, have to practically suspend their previous professional, family and social lives in order to face this dangerous disease.
„Every minute in the case of aTTP is important, just as in the case of a stroke or heart attack. Patients often come to us with predominant neurological symptoms, perhaps dizziness, paralysis or even minor neurological changes that may seem trivial at first glance. However, with aTTP, time is of the utmost importance. The sooner we diagnose and start treatment, the better the chances of improving the patient's condition." says Dr. Michał Witkowski "One patient who remains always in our memory was a young girl named Martina. She was only 18 years old. She was admitted to the ward with severe abdominal pain and, despite intensive treatment, the course of the aTTP was fulminant, resulting in ischaemia of the abdominal organs and unfortunately she could not be saved."
Risk and diagnosis. Risk factors associated with iTTP/aTTP can include a number of different factors. These include obesity, the presence of HIV, rheumatoid arthritis and lupus erythematosus, among others. Interestingly, recent studies suggest that iTTP/aTTP may also be one of the potential side effects of COVID-19, increasing the importance of monitoring patients infected with coronavirus. The disease may also occur in patients undergoing blood stem cell transplantation or bone marrow transplantation. Certain drugs may also increase the risk of iTTP/aTTP.
To diagnose iTTP/aTTP it is necessary to perform special tests that assess the activity of the ADAMTS13 enzyme. It is often necessary to wait several days for the results of these tests, although there are also rapid screening tests which, unfortunately, are rarely used in Poland. "Today, the most important thing for us is to reach out to the awareness of non-specialists, paramedics and patients with the information that often the symptoms of a disease not amenable to standard treatment can, with low platelet counts, alert them to the need for ADAMS 13 testing and possibly suggest thrombotic thrombocytopenia." says Dr. Michał Witkowski
The fight against iTTP/aTTP: challenge and opportunity. Once the diagnosis is confirmed, immediate treatment must be implemented. One possible therapeutic approach is treatment with plasmapheresis; however, it must be remembered that this type of therapy often requires prolonged hospital stays and does not protect against dangerous relapses. The current standard therapy, which is based on plasmapheresis and immunosuppression, is for supplementation of ADAMTS-13 and elimination of anti-ADAMTS-13 antibodies. However, the therapy has a limited effect, with a mortality rate of approximately 10%-20% and most deaths occurring within 14 days of diagnosis (median 9 days).
In the treatment of iTTP/aTTP, the key is to quickly achieve remission, i.e. to restore normal platelet counts by stopping clot formation. It is this achievement of remission that makes it possible to halt disease progression and minimise organ damage. However, even in approximately 30% patients, relapse occurs after standard treatment.
New hope in treatment. iTTP/aTTP is a disease that still remains an enigma of medicine, but as we gain more information about it, there is hope for more effective treatments and greater awareness of this rare disease, which may help to diagnose patients more quickly and treat them more effectively.
Recently, there has been new hope for iTTP/aTTP patients in the treatment of the disease. One of the breakthroughs is biological therapy with a monoclonal antibody - used as an adjunct to standard therapy (PEX + immunosuppression), which is aimed at protecting patients from relapses. which is a significant step forward in the fight against this dangerous disease. Such treatment is also an opportunity to improve the quality of life of patients affected by this rare disease.
„I would like to emphasise first of all that, despite the difficulties associated with the disease, there are currently ways to diagnose and treat aTTP. It is crucial to educate and raise awareness of the disease, both among patients and doctors. It is important to know that as medicine develops, more effective therapies are emerging that allow patients to lead completely normal lives. Let patients remember that they are cared for by doctors and specialists who are working to give them the best possible quality of life. aTTP is a rare disease, but patients are not alone - there is a patient community, support and sources of information to help manage the disease." underlines Dr. Michal Witkowski. "aTTP is a global problem and is one of the many challenges associated with rare autoimmune diseases. Extensive research and discussion on this disease, as well as other similar conditions, is ongoing worldwide. Our understanding of the pathophysiology of aTTP continues to grow, allowing us to better understand the disease mechanisms and develop new treatments. The more we explore this knowledge, the more effectively we can help patients. I expect we will see further advances and achievements in the treatment of the disease and other similar haematological diseases in the coming years, thanks to our increasing understanding of their mechanisms."
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iTTP/aTTP patient education and support campaign - Every hour counts. Key to understanding the problems of affected patients is the education and provision of knowledge about the disease, especially where time to diagnosis plays a significant role (e.g. emergency rooms, specialist doctors). Therefore, the first information campaign was launched from patient organisations in 2020, "aTTP. Every hour counts" which aims to draw attention to this little-known disease and the most important problems faced by Polish patients diagnosed with iTTP/aTTP. As part of the campaign, the following was produced. film telling Christine's story, as well as information material on the disease.
Seeing the needs: support, education and integration of patients with this rare blood disease in January this year on the initiative of the patients we set up the Support Group: Thrombotic thrombocytopenic purpura (TTP) - our disease and that of our loved oneswhich aims to exchange information, increase knowledge about the disease, modern treatment, improve the quality of life of patients with aTTP/iTTP and, above all, support each other.
As part of the campaign, an iTTP/aTTP patient card has also been created in collaboration with Prof. Dr. Grzegorz W. Basak to help patients who end up in hospital for quick and appropriate medical intervention. The card can be ordered by free patients by sending a special request on the Support Group.
The campaign is organised by the Institute for Patients' Rights and Health Education, Per Humanus Foundation, Federation of Polish Patients, National Forum for Rare Disease Therapy ORPHAN, Brain Stroke Foundation. Sanofi is a partner of the campaign.